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Current Allergy and Asthma Reports

Erschienen in:

01.11.2017 | Pediatric Allergy and Immunology (W Dolen, Section Editor)

Mastocytosis in Children

verfasst von: Nicholas Klaiber, Santhosh Kumar, Anne-Marie Irani

Erschienen in: Current Allergy and Asthma Reports | Ausgabe 11/2017

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Abstract

Purpose of Review

In this review, we examine the current understanding of the pathogenesis, clinical presentations, diagnostic tools, and treatment options of pediatric mastocytosis as well as the natural history of the disease.

Recent Findings

We discuss the emerging concept of mast cell activation syndrome.

Summary

Mastocytosis in children presents most commonly as isolated cutaneous lesions and is a relatively rare occurrence with excellent prognosis and spontaneous regression often occurring by adolescence. Systemic mastocytosis with organ system involvement is a more serious condition and is likely to persist into adulthood.

Kambe N, Longley BJ, Miyachi Y, Kabashima K. KIT masters mast cells in kids, too. J Invest Dermatol. 2010;130:648–50.CrossRefPubMed

Brockow K. Epidemiology, prognosis, and risk factors in mastocytosis. Immunol Allergy Clin N Am. 2014;34:283–95.CrossRef

Frieri M, Quershi M. Pediatric mastocytosis: a review of the literature. Pediatr Allergy Immunol Pulmonol. 2013;26:175–80.CrossRefPubMedPubMedCentral

Chantorn R, Shwayder T. Death from mast cell leukemia: a young patient with longstanding cutaneous mastocytosis evolving into fatal mast cell leukemia. Pediatr Dermatol. 2012;29:605–9.CrossRefPubMed

Uzzaman A, et al. Pediatric-onset mastocytosis: a long term clinical follow-up and correlation with bone marrow histopathology. Pediatr Blood Cancer. 2009;53:629–34.CrossRefPubMedPubMedCentral

Huang A, Fiadorchanka N, Brar K, Balderacchi JL, Glick SA. In-utero presentation of aggressive systemic mastocytosis in a neonate. Br J Dermatol 2017; https://doi.org/10.1111/bjd.15506.

Lanternier F, et al. Phenotypic and genotypic characteristics of mastocytosis according to the age of onset. PLoS One. 2008;3:e1906.CrossRefPubMedPubMedCentral

Fried AJ, Akin C. Primary mast cell disorders in children. Curr Allergy Asthma Rep. 2013;13:693–701.CrossRefPubMed

•• Hartmann K, et al. Cutaneous manifestations in patients with mastocytosis: consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol. 2016;137:35–45. This report describes the current classification of cutaneous mastocytosis and reviews prognostic considerations.

10.

Wiechers T, et al. Large maculopapular cutaneous lesions are associated with favorable outcome in childhood-onset mastocytosis. J Allergy Clin Immunol. 2015;136:1581–1590.e3.CrossRefPubMed

11.

Onnes MC, Tanno LK, Elberink JN. Mast cell clonal disorders: classification, diagnosis and management. Curr Treat Options Allergy. 2016;3:453–64.CrossRefPubMedPubMedCentral

12.

Piqueres-Zubiaurre T, Martinez de Lagran Z, Gonzalez-Perez R, Urtaran-Ibarzabal A, Perez de Nanclares G. Familial progressive hyperpigmentation, cutaneous mastocytosis, and gastrointestinal stromal tumor as clinical manifestations of mutations in the c-KIT receptor gene. Pediatr Dermatol. 2017;34:84–9.CrossRefPubMed

13.

Ben-Amitai D, Metzker A, Cohen HA. Pediatric cutaneous mastocytosis: a review of 180 patients. Isr Med Assoc J. 2005;7:320–2.PubMed

14.

Frieri M, Patel R, Celestin J. Mast cell activation syndrome: a review. Curr Allergy Asthma Rep. 2013;13:27–32.CrossRefPubMed

15.

Valent P, et al. Induction of differentiation of human mast cells from bone marrow and peripheral blood mononuclear cells by recombinant human stem cell factor/kit-ligand in long-term culture. Blood. 1992;80:2237–45.PubMed

16.

Kristensen T, Vestergaard H, Bindslev-Jensen C, Mortz CG, Kjaer HF, Ollert M, et al. Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis. Allergy 2017; https://doi.org/10.1111/all.13187.

17.

Bodemer C, et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol. 2010;130:804–15.CrossRefPubMed

18.

Longley BJ Jr, et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci U S A. 1999;96:1609–14.CrossRefPubMedPubMedCentral

19.

Ke H, Kazi JU, Zhao H, Sun J. Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis. Cell Biosci. 2016;6:55.CrossRefPubMedPubMedCentral

20.

Brauns TC, Schultewolter T, Dissemond J, Maschke J, Goos M. C-KIT expression in primary cutaneous T-cell lymphomas. J Cutan Pathol. 2004;31:577–82.CrossRefPubMed

21.

Jawhar M, et al. The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm. Haematologica. 2017;102:1035–43.CrossRefPubMedPubMedCentral

22.

Lee JW, et al. Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. J Pediatr Hematol Oncol. 2007;29:412–5.CrossRefPubMed

23.

Da Silva Figueiredo Celestino Gomes P, et al. Differential effects of CSF-1R D802V and KIT D816V homologous mutations on receptor tertiary structure and allosteric communication. PLoS One. 2014;9:e97519.CrossRef

24.

Vaes M, Benghiat FS, Hermine O. Targeted treatment options in mastocytosis. Front Med (Lausanne). 2017;4:110.CrossRef

25.

Gotlib J, et al. Efficacy and safety of midostaurin in advanced systemic mastocytosis. N Engl J Med. 2016;374:2530–41.CrossRefPubMed

26.

Silver R, Curley JP. Mast cells on the mind: new insights and opportunities. Trends Neurosci. 2013;36:513–21.CrossRefPubMed

27.

•• Carter MC, et al. Assessment of clinical findings, tryptase levels, and bone marrow histopathology in the management of pediatric mastocytosis. J Allergy Clin Immunol. 2015;136:1673–1679.e3. This report clarifies the clinical value of serum tryptase levels and bone marrow biopsy on management considerations.

28.

Hartmann K, et al. Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis. Gastroenterology. 2005;129:1042–6.CrossRefPubMed

29.

Wang HJ, Lin ZM, Zhang J, Yin JH, Yang Y. A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. Clin Exp Dermatol. 2014;39:146–9.CrossRefPubMed

30.

Tang X, et al. A germline mutation in KIT in familial diffuse cutaneous mastocytosis. J Med Genet. 2004;41:e88.CrossRefPubMedPubMedCentral

31.

Valent P, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25:603–25.CrossRefPubMed

32.

• Akin C. Mast cell activation syndromes. J Allergy Clin Immunol. 2017;140:349–55. This report describes the clinical features and diagnostic criteria of mast cell activation syndrome.

33.

Akin C, Valent P. Diagnostic criteria and classification of mastocytosis in 2014. Immunol Allergy Clin N Am. 2014;34:207–18.CrossRef

34.

• Lyons JJ, et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet. 2016;48:1564–9. This is the first report of a genetic condition with multisystem organ involvement and elevated basal serum tryptase level.

35.

Longley J, Duffy TP, Kohn S. The mast cell and mast cell disease. J Am Acad Dermatol. 1995;32:545–561; quiz 562-4.CrossRefPubMed

36.

Alvarez-Twose I, et al. Increased serum baseline tryptase levels and extensive skin involvement are predictors for the severity of mast cell activation episodes in children with mastocytosis. Allergy. 2012;67:813–21.CrossRefPubMedPubMedCentral

37.

Alvarez-Twose I, et al. Validation of the REMA score for predicting mast cell clonality and systemic mastocytosis in patients with systemic mast cell activation symptoms. Int Arch Allergy Immunol. 2012;157:275–80.CrossRefPubMed

38.

Moore C, Ehlayel MS, Junprasert J, Sorensen RU. Topical sodium cromoglycate in the treatment of moderate-to-severe atopic dermatitis. Ann Allergy Asthma Immunol. 1998;81:452–8.CrossRefPubMed

39.

Edwards AM, Capkova S. Oral and topical sodium cromoglicate in the treatment of diffuse cutaneous mastocytosis in an infant. BMJ Case Rep. 2011; https://doi.org/10.1136/bcr.02.2011.3910 (2011).

40.

Boyle RJ, et al. Venom immunotherapy for preventing allergic reactions to insect stings. Cochrane Database Syst Rev. 2012;10:CD008838.PubMed

41.

• Matito A, et al. Management of anesthesia in adult and pediatric mastocytosis: a study of the Spanish Network on Mastocytosis (REMA) based on 726 anesthetic procedures. Int Arch Allergy Immunol. 2015;167:47–56. This report clarifies the use of anesthetic agents with a decreased risk of triggering mast cell activation events in patients with mastocytosis.

Titel: Mastocytosis in Children
verfasst von: Nicholas Klaiber
Santhosh Kumar
Anne-Marie Irani
Publikationsdatum: 01.11.2017
Verlag: Springer US
Erschienen in: Current Allergy and Asthma Reports / Ausgabe 11/2017
Print ISSN: 1529-7322
Elektronische ISSN: 1534-6315
DOI: https://doi.org/10.1007/s11882-017-0748-4

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Mastocytosis in Children

Abstract

Purpose of Review

Recent Findings

Summary

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Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

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Purpose of Review

Recent Findings

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